This gene encodes D-2hydroxyglutarate dehydrogenase a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme which is most active in liver and kidney but also active in heart and brain converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria a rare recessive neurometabolic disorder causing developmental delay epilepsy hypotonia and dysmorphic features. [provided by RefSeq Jul 2008]